NAGA Chromosome 22
Alpha-N-acetylgalactosaminidase
Upload your DNA to see your personal genotypes for variants in NAGA.
What This Gene Does
NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Galactosidases alpha
Locus Type
gene with protein product
Location
22q13.2
Ensembl
ENSG00000198951
Associated Conditions (9)
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency
Alpha-N-acetylgalactosaminidase deficiency type 2
See cases
Inborn genetic diseases
NAGA-related disorder
Intellectual disability
Alpha-N-acetylgalactosaminidase deficiency type 3
Malignant tumor of esophagus
Key Variants
RS121434529
Conflicting classifications of pathogenicity
Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency, Alpha-N-acetylgalactosaminidase deficiency type 2
Health Risk
RS121434532
Conflicting classifications of pathogenicity
Alpha-N-acetylgalactosaminidase deficiency type 3, Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2
Health Risk
RS121434533
Conflicting classifications of pathogenicity
Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2
Health Risk
RS141557187
Conflicting classifications of pathogenicity
Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Inborn genetic diseases
Health Risk
RS147853281
Conflicting classifications of pathogenicity
Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2
Health Risk
RS186173534
Conflicting classifications of pathogenicity
Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1
Health Risk
RS200770245
Conflicting classifications of pathogenicity
Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2
Health Risk
RS201582948
Conflicting classifications of pathogenicity
Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1
Health Risk
RS374984089
Conflicting classifications of pathogenicity
Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1
Health Risk
RS553977653
Conflicting classifications of pathogenicity
Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2
Health Risk
RS73167107
Conflicting classifications of pathogenicity
Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, NAGA-related disorder
Health Risk
RS760003063
Conflicting classifications of pathogenicity
Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121434529 | Health Risk | Conflicting classifications of pathogenicity | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency, Alpha-N-acetylgalactosaminidase deficiency type 2 |
| RS121434532 | Health Risk | Conflicting classifications of pathogenicity | Alpha-N-acetylgalactosaminidase deficiency type 3, Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2 |
| RS121434533 | Health Risk | Conflicting classifications of pathogenicity | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2 |
| RS141557187 | Health Risk | Conflicting classifications of pathogenicity | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Inborn genetic diseases |
| RS147853281 | Health Risk | Conflicting classifications of pathogenicity | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2 |
| RS186173534 | Health Risk | Conflicting classifications of pathogenicity | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS200770245 | Health Risk | Conflicting classifications of pathogenicity | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2 |
| RS201582948 | Health Risk | Conflicting classifications of pathogenicity | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS374984089 | Health Risk | Conflicting classifications of pathogenicity | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS553977653 | Health Risk | Conflicting classifications of pathogenicity | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2 |
| RS73167107 | Health Risk | Conflicting classifications of pathogenicity | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, NAGA-related disorder |
| RS760003063 | Health Risk | Conflicting classifications of pathogenicity | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS776865602 | Health Risk | Conflicting classifications of pathogenicity | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2 |
| RS121434530 | Health Risk | Likely pathogenic | Alpha-N-acetylgalactosaminidase deficiency, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency |
| RS1358903734 | Health Risk | Likely pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS140673721 | Health Risk | Likely pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS2519056187 | Health Risk | Likely pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS2519065479 | Health Risk | Likely pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS746195722 | Health Risk | Likely pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS768761898 | Health Risk | Likely pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1, Malignant tumor of esophagus |
| RS776149537 | Health Risk | Likely pathogenic | — |
| RS779423223 | Health Risk | Likely pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS121434531 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 2 |
| RS1336799721 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS1348362674 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS1381519494 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS1435289617 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS1461803502 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS182798205 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS1926691614 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS2519053431 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS2519053484 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS2519053637 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS2519056409 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS2519056669 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS2519061179 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS2519061488 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS2519064275 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS2519064379 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS2519065527 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS756136933 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS762752949 | Health Risk | Pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS775099024 | Health Risk | Pathogenic/Likely pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 |
| RS781137026 | Health Risk | Pathogenic/Likely pathogenic | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency, Alpha-N-acetylgalactosaminidase deficiency type 1 |